ClinVar Miner

List of variants reported as likely pathogenic by Department of Medical Genetics, Oslo University Hospital

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys) rs201638429 0.00005
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe) rs369630361 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro) rs772037717 0.00001
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)dup
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
NM_000059.4(BRCA2):c.631+4A>G rs397507841
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe) rs1850299732
NM_000474.4(TWIST1):c.171del (p.Gly59fs) rs1788590614
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val) rs1563159945
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_001371928.1(AHDC1):c.2772del (p.Arg925fs) rs2019386507
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_003412.4(ZIC1):c.1153G>T (p.Glu385Ter) rs2087399510
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_004429.5(EFNB1):c.128+5G>A rs2080439797
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly) rs2080468583
NM_004429.5(EFNB1):c.635_636del (p.Val212fs) rs2080473382
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_006563.5(KLF1):c.1001C>G (p.Thr334Arg) rs483352841
NM_006563.5(KLF1):c.1022G>A (p.Cys341Tyr) rs483352839
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006563.5(KLF1):c.895C>G (p.His299Asp) rs137852688
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.213-5T>A rs886038196
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_030632.3(ASXL3):c.3033dup (p.Leu1012fs) rs2067643753
NM_207037.2(TCF12):c.778_779del (p.Met260fs) rs2059175292
Single allele

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